Variant report

Variant	rs13392542
Chromosome Location	chr2:173304715-173304716
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173290118..173293854-chr2:173304445..173308429,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226963	Chromatin interaction
ENSG00000091409	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10195932	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv875414	chr2:173267081-173307756	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv1847874	chr2:173277361-173308318	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv583663	chr2:173287832-173307756	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv583664	chr2:173289239-173307756	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173294800-173306400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:173294800-173308800	Enhancers	Stomach Mucosa	stomach
3	chr2:173295200-173306600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:173295200-173306600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr2:173295600-173308600	Enhancers	Fetal Intestine Large	intestine
6	chr2:173296000-173305600	Weak transcription	Fetal Lung	lung
7	chr2:173296000-173307600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr2:173296200-173305000	Enhancers	H9 Cell Line	embryonic stem cell
9	chr2:173296200-173307600	Enhancers	Fetal Thymus	thymus
10	chr2:173296600-173308600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr2:173297000-173306600	Enhancers	Small Intestine	intestine
12	chr2:173297000-173307600	Enhancers	Pancreas	Pancrea
13	chr2:173297200-173304800	Weak transcription	Fetal Kidney	kidney
14	chr2:173297600-173307400	Enhancers	Spleen	Spleen
15	chr2:173299200-173305000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr2:173300200-173307600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr2:173300400-173305000	Enhancers	Lung	lung
18	chr2:173300400-173308000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr2:173300600-173306600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:173300800-173304800	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr2:173301000-173308400	Enhancers	Fetal Intestine Small	intestine
22	chr2:173301200-173305600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr2:173301200-173305800	Weak transcription	Fetal Heart	heart
24	chr2:173301200-173308400	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr2:173301400-173304800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:173301400-173308400	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr2:173301600-173305000	Enhancers	Placenta Amnion	Placenta Amnion
28	chr2:173301600-173305400	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr2:173301800-173305600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:173301800-173305800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:173302000-173304800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:173302000-173305000	Transcr. at gene 5' and 3'	NHEK	skin
33	chr2:173302400-173304800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:173302400-173304800	Enhancers	Esophagus	oesophagus
35	chr2:173302400-173307600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr2:173302400-173308200	Enhancers	HepG2	liver
37	chr2:173302600-173308000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr2:173302800-173304800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:173303000-173305000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:173303000-173305000	Enhancers	Colonic Mucosa	Colon
41	chr2:173303000-173305000	Enhancers	Left Ventricle	heart
42	chr2:173303000-173305200	Enhancers	Primary T cells fromperipheralblood	blood
43	chr2:173303000-173305400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr2:173303000-173305600	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr2:173303000-173305800	Enhancers	Brain Anterior Caudate	brain
46	chr2:173303200-173305600	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr2:173303200-173305600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr2:173303200-173305600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr2:173303200-173307600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr2:173303200-173308400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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